As A Parent, You Cannot Accept That Your Child Will Live To Be Less Than You

After a year and a half, the carefree happiness and joy of the girl Karolina was replaced by worry and fear The parents noticed that Karolina was struggling with her balance from time to time, and at the age of two, her hand shook quite a few times during certain movements, they say.

"We watched this for a while She wasn't that good at stairs either, she always needed a support to hold herself up.

That's why we said it would be good to get checked and see a doctor as a precaution," said Karolina's mother The pediatrician referred her to a neurologist, and after an MRI of the head, she was sent for genetic testing, which revealed the diagnosis: the rare type B Cockayne syndrome.

"He said we can expect her to live to one, first, or second decade," he said Karolina's father said.

The disease causes accelerated aging, the child may begin to lag behind mentally, he becomes disabled and his skin becomes extremely sensitive to sunlight "It's hard to believe what's still waiting for her, because now she walks so well, she's clear, understands and talks to you.

And that in time she'll have a wheelchair, blindness and that she can become deaf," adds her father "It was clearly said that there is no cure.

They suggested us to use the time we have Such words are unacceptable for a parent.

You cannot accept that your child will live to be less than you," says the father So they started looking for something that could help Karolina, and the only answer that came up was the development of gene therapy for this syndrome.

With the help of the Viljem Julijan association, they connected with researchers in America and Portugal There, the group is led by dr.

Nobrega, who has been researching gene therapy for rare diseases for more than 15 years " It's important for us at the university research center to focus on rare diseases because they don't get as much attention from pharmaceutical companies.

Specifically for Cockayne syndrome, a family who also has a daughter with this syndrome approached me, asking if I was interested and whether it would be possible to develop gene therapy," said Dr Nobrega.

Thus, the initial research for the development of this drug is already done, but they still have a long and financially very demanding journey ahead of them The entire development of the drug and the amount that Karolina's family has to raise is two million euros.

"With this amount, a research group from the USA is also being financed, which is doing something similar Both groups are in contact.

We will meet soon to see if we can cooperate and progress even faster," adds Dr Nobrega.

Both research groups have presented a step-by-step research plan for drug development Each next step depends on the success of the previous one, and accordingly we will finance this research, i.

E In Batches," Explains Jelen

They hope to be able to start pre-clinical studies in March, i e.

testing on animals, and then in the second half of the year the results, if they are good, they will present it to the European Medicines Agency "If the EMA says it is enough, then we have an open path to clinical studies at the end of next year.

But if the EMA says that we still have to prove certain things later, then it will be a little more difficult and will take longer than a year," adds Dr Nobrega.

"We try to direct our thoughts as much as possible to the solution and not to the problems that await us It is clear that we do not have time to spare.

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